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Variant : CV237252 (NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg)) Homo sapiens

Symbol: CV237252
Name: NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg)
Condition: Deficiency of alpha-mannosidase [RCV000323890]|not provided [RCV000224942]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 11/08/2017
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001173498.1:c.2218G>A
NM_000528.4:c.2221G>A
NM_000528.3:c.2221G>A
NP_001166969.1:p.Gly740Arg
NG_008318.1:g.21819G>A
NC_000019.10:g.12649959C>T
NC_000019.9:g.12760773C>T
NP_000519.2:p.Gly741Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,649,959 - 12,649,959CLINVAR
GRCh371912,760,773 - 12,760,773 (+)CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis
Age Of Onset: childhood
Prevalence: 1-9 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11351094
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.